Canonical Allele Identifier: CA470281444

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122050G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362293G>C , CM000672.2:g.71362293G>C	GRCh38
NC_000010.10:g.73122050G>C , CM000672.1:g.73122050G>C	GRCh37
NC_000010.9:g.72792056G>C	NCBI36
NG_017066.1:g.48041G>C
NG_017066.2:g.48035G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2589G>C
ENST00000373189.6:c.1113G>C MANE Select	ENSP00000362285.5:p.Val371=
ENST00000479577.2:c.879G>C	ENSP00000493995.1:p.Val293=
ENST00000642198.1:c.*685G>C	ENSP00000494827.1:n.*685G>C
ENST00000642772.1:c.*94+6050G>C	ENSP00000495041.1:n.*94+6050G>C
ENST00000643042.1:c.734G>C	ENSP00000496674.1:n.734G>C
ENST00000643619.1:c.*696G>C	ENSP00000494378.1:n.*696G>C
ENST00000643752.1:c.*439G>C	ENSP00000495000.1:n.*439G>C
ENST00000644088.1:c.*434G>C	ENSP00000494066.1:n.*434G>C
ENST00000644591.1:c.*439G>C	ENSP00000496664.1:n.*439G>C
ENST00000644895.1:c.*99+6050G>C	ENSP00000493872.1:n.*99+6050G>C
ENST00000645345.1:c.*685G>C	ENSP00000495859.1:n.*685G>C
ENST00000647524.1:c.*696G>C	ENSP00000495077.1:n.*696G>C
ENST00000373189.5:c.1113G>C	ENSP00000362285.5:p.Val371=
ENST00000469204.1:n.610G>C
NM_001174098.1:c.*342G>C	NP_001167569.1:n.*342G>C
NM_018344.5:c.1113G>C	NP_060814.4:p.Val371=
NR_033413.1:n.1087G>C
NR_033414.1:n.860G>C
XM_006717910.2:c.879G>C	XP_006717973.1:p.Val293=
NM_001363518.1:c.879G>C	NP_001350447.1:p.Val293=
XM_017016377.2:c.675G>C	XP_016871866.1:p.Val225=
XM_017016378.2:c.495G>C	XP_016871867.1:p.Val165=
NM_018344.6:c.1113G>C MANE Select	NP_060814.4:p.Val371=
NM_001174098.2:c.*342G>C	NP_001167569.1:n.*342G>C
NM_001363518.2:c.879G>C	NP_001350447.1:p.Val293=
NR_033413.2:n.1081G>C
NR_033414.2:n.854G>C